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. 2020 Dec 22;185(3):710–718. doi: 10.1002/ajmg.a.62024

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© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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The variants of ANKRD11 have no effect on the expression of its protein and mRNA. (a) Schematic view of human ANKRD11 protein showing the location of the two variants involved in our study. ANK, Ankyrin repeats; RD1, Repression domain 1; AD, Activation domain; RD2, Repression domain 2. (b) Detection of the relative mRNA levels of wild type ANKRD11 and its mutants by RT‐qPCR. Empty vector, wild type ANKRD11, ANKRD11(p. Lys1347del) or ANKRD11 (p. Leu2143Val) were transfected into HEK293T cells. Total RNA was extracted, complementary DNA (cDNA) was synthesized, and then the relative mRNA levels of ANKRND11 were detected by RT‐qPCR. Data are expressed as mean ± SD. **p < 0.01, very significantly difference. No mRNA level changes of ANKRND11 were observed. (c) Detection of the protein levels of wild type ANKRD11 and its mutants by immunoblotting. Empty vector, or Flag tagged wild type ANKRD11/ANKRD11 (p. Lys1347del)/ANKRD11 (p. Leu2143Val) were transfected into HEK293T cells, and the protein levels of Flag tagged protein and GAPDH were detected by immunoblotting. No protein level changes of ANKRD11 were observed [Color figure can be viewed at wileyonlinelibrary.com]